V78L (p.Val78Leu) variant of ERCC3 (P19447)
V78L (p.Val78Leu) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
V78L (p.Val78Leu) variant details
- p.Val78Leu
- gnomAD rs1244964997
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.56
- CADD 25.20
- PolyPhen-2 0.17
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available