P91S (p.Pro91Ser) variant of COL17A1 (Collagen alpha-1(XVII) chain)
P91S (p.Pro91Ser) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
P91S (p.Pro91Ser) variant details
- p.Pro91Ser
- cosmic curated COSV62225
- TOPMed rs1321190167
- gnomAD rs1321190167
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 21.20
- PolyPhen-2 0.24
- SIFT 0.26
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)