A88V (p.Ala88Val) variant of ERCC3 (P19447)
A88V (p.Ala88Val) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
A88V (p.Ala88Val) variant details
- p.Ala88Val
- ExAC rs762406830
- gnomAD rs762406830
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.45
- CADD 27.20
- PolyPhen-2 0.51
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available