M68V (p.Met68Val) variant of IFT172 (Q9UG01)
M68V (p.Met68Val) in IFT172 (Q9UG01) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
M68V (p.Met68Val) variant details
- p.Met68Val
- rs1007588478
- ClinGen CA44519585
- ClinVar RCV001212939
- ClinVar RCV003887909
- Uncertain significance
- Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentos
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.04
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Short-rib thoracic dysplasia 10 with or without polydactyly; Ret)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available