S49T (p.Ser49Thr) variant of PRPH2 (Peripherin-2)
S49T (p.Ser49Thr) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PRPH2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S49T (p.Ser49Thr) variant details
- p.Ser49Thr
- rs146844134
- ClinGen CA3808659
- ClinVar RCV001342415
- ESP rs146844134
- Uncertain significance
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.45
- CADD 22.80
- PolyPhen-2 0.88
- SIFT 0.10
- ClinVar: Uncertain significance (PRPH2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available