S11R (p.Ser11Arg) variant of COL5A1 (Collagen alpha-1(V) chain)
S11R (p.Ser11Arg) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S11R (p.Ser11Arg) variant details
- p.Ser11Arg
- gnomAD 9-134642220-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.22
- CADD 12.10
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.1e-06)
- Structural context available
- Literature evidence available