F98L (p.Phe98Leu) variant of COL17A1 (Collagen alpha-1(XVII) chain)
F98L (p.Phe98Leu) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
F98L (p.Phe98Leu) variant details
- p.Phe98Leu
- gnomAD rs1225324653
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 18.60
- PolyPhen-2 0.97
- SIFT 0.18
- Most common in the Middle Eastern population (allele frequency 0.0007)