L76V (p.Leu76Val) variant of ERCC3 (P19447)
L76V (p.Leu76Val) in ERCC3 (P19447) is a missense change. Clinical records from ClinVar, EBI, 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 0.67 / 1. The record also includes population frequency data and structural context.
L76V (p.Leu76Val) variant details
- p.Leu76Val
- rs1685350770
- ClinGen CA348391998
- ClinVar RCV002012533
- Ensembl rs1685350770
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.60
- ESM-1b 0.86
- AlphaMissense 0.13
- CADD 24.50
- PolyPhen-2 0.82
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available