E125K (p.Glu125Lys) variant of COL17A1 (Collagen alpha-1(XVII) chain)
E125K (p.Glu125Lys) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
E125K (p.Glu125Lys) variant details
- p.Glu125Lys
- cosmic curated COSV62228
- 1000Genomes rs535452126
- ExAC rs535452126
- gnomAD rs535452126
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- CADD 26.40
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)