L67V (p.Leu67Val) variant of ERCC3 (P19447)
L67V (p.Leu67Val) in ERCC3 (P19447) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
L67V (p.Leu67Val) variant details
- p.Leu67Val
- Ensembl rs2104782870
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- ESM-1b 1.00
- AlphaMissense 0.21
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available