E26V (p.Glu26Val) variant of NTHL1 (Endonuclease III-like protein 1)
E26V (p.Glu26Val) in NTHL1 (Endonuclease III-like protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E26V (p.Glu26Val) variant details
- p.Glu26Val
- ExAC rs763847748
- gnomAD rs763847748
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- CADD 21.90
- PolyPhen-2 0.21
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available