R9Q (p.Arg9Gln) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R9Q (p.Arg9Gln) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Junctional epidermolysis bullosa, non-Herlitz type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
R9Q (p.Arg9Gln) variant details
- p.Arg9Gln
- rs201399777
- NCI-TCGA Cosmic COSV6222
- cosmic curated COSV62226
- ExAC rs201399777
- Uncertain significance
- Junctional epidermolysis bullosa, non-Herlitz type
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 22.50
- PolyPhen-2 0.17
- SIFT 0.21
- ClinVar: Uncertain significance (Junctional epidermolysis bullosa, non-Herlitz type)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)