I127V (p.Ile127Val) variant of COL11A1 (Collagen alpha-1(XI) chain)
I127V (p.Ile127Val) 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 0.17 / 1. The record also includes population frequency data and structural context.
I127V (p.Ile127Val) variant details
- p.Ile127Val
- ExAC rs774983366
- gnomAD rs774983366
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.10
- 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