S88Y (p.Ser88Tyr) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S88Y (p.Ser88Tyr) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
S88Y (p.Ser88Tyr) variant details
- p.Ser88Tyr
- TOPMed rs1589577980
- gnomAD rs1589577980
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)