K40T (p.Lys40Thr) variant of ERCC5 (P28715)
K40T (p.Lys40Thr) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K40T (p.Lys40Thr) variant details
- p.Lys40Thr
- gnomAD 13-102852148-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 27.00
- PolyPhen-2 0.55
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available