H46M (p.His46Met) variant of ERCC5 (P28715)
H46M (p.His46Met) in ERCC5 (P28715) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and published literature.
H46M (p.His46Met) variant details
- p.His46Met
- rs1187206011
- gnomAD 13-102852163-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 23.10
- Most common in the South Asian population (allele frequency 8.1e-05)
- Literature evidence available