P58L (p.Pro58Leu) variant of COL5A2 (Collagen alpha-2(V) chain)
P58L (p.Pro58Leu) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P58L (p.Pro58Leu) variant details
- p.Pro58Leu
- TOPMed rs766925699
- gnomAD rs766925699
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.44
- AlphaMissense 0.13
- MetaLR 0.46
- MetaSVM 0.07
- CADD 25.90
- PolyPhen-2 0.95
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available