P100S (p.Pro100Ser) variant of COL5A2 (Collagen alpha-2(V) chain)
P100S (p.Pro100Ser) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
P100S (p.Pro100Ser) variant details
- p.Pro100Ser
- ExAC rs770141309
- gnomAD rs770141309
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.23
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available