S43G (p.Ser43Gly) variant of NTHL1 (Endonuclease III-like protein 1)
S43G (p.Ser43Gly) in NTHL1 (Endonuclease III-like protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S43G (p.Ser43Gly) variant details
- p.Ser43Gly
- gnomAD rs1209679396
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 6.18
- PolyPhen-2 0.03
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available