S45G (p.Ser45Gly) variant of NTHL1 (Endonuclease III-like protein 1)
S45G (p.Ser45Gly) 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 0.06 / 1. The record also includes population frequency data and structural context.
S45G (p.Ser45Gly) variant details
- p.Ser45Gly
- rs2548321618
- ClinGen CA394298037
- ClinVar RCV002953944
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0596
- CADD 0.18
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available