H60Q (p.His60Gln) variant of ERCC5 (P28715)
H60Q (p.His60Gln) in ERCC5 (P28715) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
H60Q (p.His60Gln) variant details
- p.His60Gln
- rs771389207
- NCI-TCGA Cosmic COSV6324
- cosmic curated COSV63246
- ExAC rs771389207
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 25.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available