S3P (p.Ser3Pro) variant of ERCC4 (DNA repair endonuclease XPF)
S3P (p.Ser3Pro) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S3P (p.Ser3Pro) variant details
- p.Ser3Pro
- gnomAD 16-13920172-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0868
- REVEL 0.05
- CADD 7.32
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available