F12C (p.Phe12Cys) variant of USH2A (Usherin)
F12C (p.Phe12Cys) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
F12C (p.Phe12Cys) variant details
- p.Phe12Cys
- rs2039692556
- ClinGen CA344905162
- ClinVar RCV003890617
- Ensembl rs2039692556
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.17
- CADD 21.00
- PolyPhen-2 0.44
- SIFT 0.00
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available