T31S (p.Thr31Ser) variant of USH2A (Usherin)
T31S (p.Thr31Ser) in USH2A (Usherin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
T31S (p.Thr31Ser) variant details
- p.Thr31Ser
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10022
- NCI-TCGA Cosmic COSV5633
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.01
- CADD 8.26
- PolyPhen-2 0.00
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available