S130L (p.Ser130Leu) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S130L (p.Ser130Leu) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
S130L (p.Ser130Leu) variant details
- p.Ser130Leu
- gnomAD rs1460614904
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- CADD 27.10
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)