G20V (p.Gly20Val) variant of NTHL1 (Endonuclease III-like protein 1)
G20V (p.Gly20Val) 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.
G20V (p.Gly20Val) variant details
- p.Gly20Val
- TOPMed rs1430939825
- gnomAD rs1430939825
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- CADD 12.60
- PolyPhen-2 0.06
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available