F67I (p.Phe67Ile) variant of ERCC5 (P28715)
F67I (p.Phe67Ile) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
F67I (p.Phe67Ile) variant details
- p.Phe67Ile
- gnomAD 13-102852228-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 28.90
- PolyPhen-2 0.39
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available