G20A (p.Gly20Ala) variant of NTHL1 (Endonuclease III-like protein 1)
G20A (p.Gly20Ala) in NTHL1 (Endonuclease III-like protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G20A (p.Gly20Ala) variant details
- p.Gly20Ala
- TOPMed rs1430939825
- gnomAD rs1430939825
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 8.94
- PolyPhen-2 0.00
- SIFT 0.42
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available