S11G (p.Ser11Gly) variant of COL5A1 (Collagen alpha-1(V) chain)
S11G (p.Ser11Gly) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S11G (p.Ser11Gly) variant details
- p.Ser11Gly
- gnomAD 9-134642218-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.14
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available