S88F (p.Ser88Phe) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S88F (p.Ser88Phe) 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.
S88F (p.Ser88Phe) variant details
- p.Ser88Phe
- TOPMed rs1589577980
- gnomAD rs1589577980
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- CADD 27.80
- Most common in the HGDP:YAKUT population (allele frequency 0.04)