A37V (p.Ala37Val) variant of COL11A1 (Collagen alpha-1(XI) chain)
A37V (p.Ala37Val) 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 0.21 / 1. The record also includes population frequency data and structural context.
A37V (p.Ala37Val) variant details
- p.Ala37Val
- rs369749483
- ClinGen CA975551
- ClinVar RCV002745413
- 1000Genomes rs369749483
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available