R111S (p.Arg111Ser) variant of COL5A2 (Collagen alpha-2(V) chain)
R111S (p.Arg111Ser) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. 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.
R111S (p.Arg111Ser) variant details
- p.Arg111Ser
- gnomAD rs1162712722
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.51
- CADD 27.50
- PolyPhen-2 0.02
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 2e-06)
- Structural context available