V121M (p.Val121Met) variant of ERCC2 (P18074)
V121M (p.Val121Met) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
V121M (p.Val121Met) variant details
- p.Val121Met
- cosmic curated COSV55538
- gnomAD rs1434217756
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.77
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available