H44Q (p.His44Gln) variant of NTHL1 (Endonuclease III-like protein 1)
H44Q (p.His44Gln) 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 0.57 / 1. The record also includes population frequency data and structural context.
H44Q (p.His44Gln) variant details
- p.His44Gln
- rs2150947647
- ClinGen CA394298044
- ClinVar RCV003713140
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 7.11
- PolyPhen-2 0.03
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available