I26N (p.Ile26Asn) variant of ERCC5 (P28715)
I26N (p.Ile26Asn) 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 0.69 / 1. The record also includes population frequency data and structural context.
I26N (p.Ile26Asn) variant details
- p.Ile26Asn
- NCI-TCGA Cosmic COSV5728
- cosmic curated COSV57281
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available