I65V (p.Ile65Val) variant of COL17A1 (Collagen alpha-1(XVII) chain)
I65V (p.Ile65Val) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
I65V (p.Ile65Val) variant details
- p.Ile65Val
- TOPMed rs1484997397
- gnomAD rs1484997397
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.56
- Most common in the 1KG:CLM population (allele frequency 0.0053)