I71V (p.Ile71Val) variant of ERCC2 (P18074)
I71V (p.Ile71Val) in ERCC2 (P18074) 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 0.33 / 1. The record also includes population frequency data and structural context.
I71V (p.Ile71Val) variant details
- p.Ile71Val
- NCI-TCGA Cosmic COSV9967
- cosmic curated COSV99676
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.14
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.42
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available