A21E (p.Ala21Glu) variant of ERCC5 (P28715)
A21E (p.Ala21Glu) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A21E (p.Ala21Glu) variant details
- p.Ala21Glu
- gnomAD 13-102846328-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- CADD 23.10
- PolyPhen-2 0.22
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available