G49A (p.Gly49Ala) variant of COL17A1 (Collagen alpha-1(XVII) chain)
G49A (p.Gly49Ala) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
G49A (p.Gly49Ala) variant details
- p.Gly49Ala
- gnomAD rs1431707848
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 22.80
- PolyPhen-2 0.17
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)