S56N (p.Ser56Asn) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S56N (p.Ser56Asn) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
S56N (p.Ser56Asn) variant details
- p.Ser56Asn
- gnomAD rs1394179595
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- CADD 24.30
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)