P19A (p.Pro19Ala) variant of ERCC5 (P28715)
P19A (p.Pro19Ala) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P19A (p.Pro19Ala) variant details
- p.Pro19Ala
- gnomAD 13-102846321-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 24.00
- PolyPhen-2 0.87
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available