D24V (p.Asp24Val) variant of ERCC3 (P19447)
D24V (p.Asp24Val) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D24V (p.Asp24Val) variant details
- p.Asp24Val
- TOPMed rs1313189867
- gnomAD rs1313189867
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.10
- ESM-1b 0.41
- AlphaMissense 0.09
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available