S45I (p.Ser45Ile) variant of NTHL1 (Endonuclease III-like protein 1)
S45I (p.Ser45Ile) 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 0.09 / 1. The record also includes population frequency data and structural context.
S45I (p.Ser45Ile) variant details
- p.Ser45Ile
- Ensembl rs1567372419
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0909
- CADD 4.89
- PolyPhen-2 0.02
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available