G29E (p.Gly29Glu) variant of NTHL1 (Endonuclease III-like protein 1)
G29E (p.Gly29Glu) in NTHL1 (Endonuclease III-like protein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G29E (p.Gly29Glu) variant details
- p.Gly29Glu
- rs1453838226
- NCI-TCGA Cosmic COSV9952
- gnomAD rs1453838226
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- CADD 1.50
- PolyPhen-2 0.00
- SIFT 0.35
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available