V104I (p.Val104Ile) variant of COL17A1 (Collagen alpha-1(XVII) chain)
V104I (p.Val104Ile) in COL17A1 (Collagen alpha-1(XVII) chain) 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 0.07 / 1. The record also includes population frequency data.
V104I (p.Val104Ile) variant details
- p.Val104Ile
- rs766539630
- NCI-TCGA Cosmic COSV6222
- cosmic curated COSV62226
- ExAC rs766539630
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0662
- CADD 0.56
- PolyPhen-2 0.00
- SIFT 0.47
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)