M60V (p.Met60Val) variant of IFT172 (Q9UG01)
M60V (p.Met60Val) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 71; Bardet-Biedl syndrome 20; Short-rib thoracic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
M60V (p.Met60Val) variant details
- p.Met60Val
- rs758377122
- ClinGen CA1581107
- ClinVar RCV002026500
- ClinVar RCV002479788
- Uncertain significance
- Retinitis pigmentosa 71; Bardet-Biedl syndrome 20; Short-rib thoracic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.09
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (Retinitis pigmentosa 71; Bardet-Biedl syndrome 20; Short-rib tho)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)