P88S (p.Pro88Ser) variant of COL5A2 (Collagen alpha-2(V) chain)
P88S (p.Pro88Ser) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P88S (p.Pro88Ser) variant details
- p.Pro88Ser
- ExAC rs753669685
- gnomAD rs753669685
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.48
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available