T31A (p.Thr31Ala) variant of USH2A (Usherin)
T31A (p.Thr31Ala) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
T31A (p.Thr31Ala) variant details
- p.Thr31Ala
- rs373207201
- ClinGen CA1396856
- ClinVar RCV001930943
- ESP rs373207201
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.10
- CADD 9.62
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available