L24V (p.Leu24Val) variant of COL11A1 (Collagen alpha-1(XI) chain)
L24V (p.Leu24Val) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
L24V (p.Leu24Val) variant details
- p.Leu24Val
- ExAC rs757861232
- gnomAD rs757861232
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0714
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available