N48T (p.Asn48Thr) variant of ERCC5 (P28715)
N48T (p.Asn48Thr) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
N48T (p.Asn48Thr) variant details
- p.Asn48Thr
- gnomAD 13-102852172-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- CADD 22.50
- PolyPhen-2 0.84
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available