I101V (p.Ile101Val) variant of COL11A1 (Collagen alpha-1(XI) chain)
I101V (p.Ile101Val) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. 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.
I101V (p.Ile101Val) variant details
- p.Ile101Val
- rs751303776
- ClinGen CA975485
- ClinVar RCV002049769
- ExAC rs751303776
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.08
- ESM-1b 0.19
- AlphaMissense 0.08
- CADD 17.60
- PolyPhen-2 0.02
- SIFT 0.42
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available