P119L (p.Pro119Leu) variant of COL17A1 (Collagen alpha-1(XVII) chain)
P119L (p.Pro119Leu) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
P119L (p.Pro119Leu) variant details
- p.Pro119Leu
- cosmic curated COSV62225
- TOPMed rs1044796291
- gnomAD rs1044796291
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available