I17T (p.Ile17Thr) variant of USH2A (Usherin)
I17T (p.Ile17Thr) 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 0.04 / 1. The record also includes population frequency data and structural context.
I17T (p.Ile17Thr) variant details
- p.Ile17Thr
- rs942541689
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10024
- gnomAD rs942541689
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0393
- REVEL 0.03
- CADD 0.64
- PolyPhen-2 0.00
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available