A17T (p.Ala17Thr) variant of ERBB3 (P21860)
A17T (p.Ala17Thr) in ERBB3 (P21860) 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 0.25 / 1. The record also includes population frequency data and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- rs755757062
- NCI-TCGA Cosmic COSV9991
- cosmic curated COSV99916
- ExAC rs755757062
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.07
- MetaLR 0.21
- MetaSVM -0.83
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.31
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available