S56T (p.Ser56Thr) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S56T (p.Ser56Thr) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
S56T (p.Ser56Thr) variant details
- p.Ser56Thr
- gnomAD rs1394179595
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 20.00
- PolyPhen-2 0.22
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 4.8e-05)