P22A (p.Pro22Ala) variant of COL5A1 (Collagen alpha-1(V) chain)
P22A (p.Pro22Ala) in COL5A1 (Collagen alpha-1(V) 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 0.31 / 1. The record also includes population frequency data and structural context.
P22A (p.Pro22Ala) variant details
- p.Pro22Ala
- rs963540956
- ClinGen CA201068653
- ClinVar RCV003481953
- TOPMed rs963540956
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.16
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.3e-06)
- Structural context available