G16E (p.Gly16Glu) variant of NTHL1 (Endonuclease III-like protein 1)
G16E (p.Gly16Glu) 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 0.13 / 1. The record also includes population frequency data and structural context.
G16E (p.Gly16Glu) variant details
- p.Gly16Glu
- rs747325774
- ClinGen CA027835
- ClinVar RCV003550121
- ExAC rs747325774
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 9.22
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available