I65L (p.Ile65Leu) variant of COL17A1 (Collagen alpha-1(XVII) chain)
I65L (p.Ile65Leu) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
I65L (p.Ile65Leu) variant details
- p.Ile65Leu
- TOPMed rs1484997397
- gnomAD rs1484997397
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the 1KG:CLM population (allele frequency 0.0053)