I10T (p.Ile10Thr) variant of ERCC4 (DNA repair endonuclease XPF)
I10T (p.Ile10Thr) in ERCC4 (DNA repair endonuclease XPF) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
I10T (p.Ile10Thr) variant details
- p.Ile10Thr
- gnomAD 16-13920194-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0651
- REVEL 0.04
- CADD 2.98
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available