A38T (p.Ala38Thr) variant of ERCC5 (P28715)
A38T (p.Ala38Thr) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and published literature.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- gnomAD 13-102852141-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available