D47V (p.Asp47Val) variant of ERCC3 (P19447)
D47V (p.Asp47Val) in ERCC3 (P19447) is a missense change. 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.
D47V (p.Asp47Val) variant details
- p.Asp47Val
- ExAC rs777771292
- gnomAD rs777771292
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 25.40
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available