W15R (p.Trp15Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
W15R (p.Trp15Arg) in COL11A1 (Collagen alpha-1(XI) 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 0.24 / 1. The record also includes population frequency data and structural context.
W15R (p.Trp15Arg) variant details
- p.Trp15Arg
- rs774767622
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10061
- ExAC rs774767622
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.24
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.35
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available