A84V (p.Ala84Val) variant of COL11A1 (Collagen alpha-1(XI) chain)
A84V (p.Ala84Val) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A84V (p.Ala84Val) variant details
- p.Ala84Val
- rs1290800296
- gnomAD rs1290800296
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 23.10
- PolyPhen-2 0.09
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available