R106H (p.Arg106His) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R106H (p.Arg106His) 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 0.34 / 1. The record also includes population frequency data.
R106H (p.Arg106His) variant details
- p.Arg106His
- rs529850690
- NCI-TCGA Cosmic COSV6222
- cosmic curated COSV62225
- 1000Genomes rs529850690
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)