S3T (p.Ser3Thr) variant of ERCC4 (DNA repair endonuclease XPF)
S3T (p.Ser3Thr) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S3T (p.Ser3Thr) variant details
- p.Ser3Thr
- gnomAD 16-13920172-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0754
- REVEL 0.04
- CADD 8.76
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available