S29T (p.Ser29Thr) variant of USH2A (Usherin)
S29T (p.Ser29Thr) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Retinitis pigmentosa 39. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
S29T (p.Ser29Thr) variant details
- p.Ser29Thr
- rs377309313
- ClinGen CA1396857
- ClinVar RCV002633852
- ClinVar RCV002633853
- Uncertain significance
- Inborn genetic diseases; not provided; Retinitis pigmentosa 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.0411
- REVEL 0.01
- CADD 2.65
- PolyPhen-2 0.05
- SIFT 0.52
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Retinitis pigmentosa 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-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)