H60H (p.His60His) variant of ERCC5 (P28715)
H60H (p.His60His) in ERCC5 (P28715) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
H60H (p.His60His) variant details
- p.His60His
- gnomAD 13-102852209-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 8.97
- Most common in the Non-Finnish European population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available