P95T (p.Pro95Thr) variant of USH2A (Usherin)
P95T (p.Pro95Thr) 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 0.25 / 1. The record also includes population frequency data and structural context.
P95T (p.Pro95Thr) variant details
- p.Pro95Thr
- rs767339477
- ClinGen CA1396821
- ClinVar RCV003118557
- ExAC rs767339477
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.04
- CADD 14.90
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available