P56S (p.Pro56Ser) variant of COL5A2 (Collagen alpha-2(V) chain)
P56S (p.Pro56Ser) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P56S (p.Pro56Ser) variant details
- p.Pro56Ser
- Ensembl rs1687237611
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.45
- CADD 26.30
- PolyPhen-2 0.63
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available