W4R (p.Trp4Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
W4R (p.Trp4Arg) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
W4R (p.Trp4Arg) variant details
- p.Trp4Arg
- rs766915989
- ClinGen CA975591
- ClinVar RCV002858022
- ExAC rs766915989
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available