E26D (p.Glu26Asp) variant of NTHL1 (Endonuclease III-like protein 1)
E26D (p.Glu26Asp) 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 0.22 / 1. The record also includes population frequency data and structural context.
E26D (p.Glu26Asp) variant details
- p.Glu26Asp
- rs2084518192
- ClinGen CA394298348
- ClinVar RCV001208148
- Ensembl rs2084518192
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 9.31
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available