A36T (p.Ala36Thr) variant of ERCC4 (DNA repair endonuclease XPF)
A36T (p.Ala36Thr) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- Ensembl rs2141937194
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.55
- AlphaMissense 0.82
- MetaLR 0.53
- MetaSVM 0.21
- CADD 26.70
- PolyPhen-2 1.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available