S14I (p.Ser14Ile) variant of NTHL1 (Endonuclease III-like protein 1)
S14I (p.Ser14Ile) 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 0.42 / 1. The record also includes population frequency data and structural context.
S14I (p.Ser14Ile) variant details
- p.Ser14Ile
- rs746090969
- ClinGen CA394298539
- ClinVar RCV003016833
- ExAC rs746090969
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- CADD 22.40
- PolyPhen-2 0.35
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available