A19V (p.Ala19Val) variant of NTHL1 (Endonuclease III-like protein 1)
A19V (p.Ala19Val) 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 0.29 / 1. The record also includes population frequency data and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- rs2084523141
- ClinGen CA394298463
- ClinVar RCV003057722
- Ensembl rs2084523141
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- CADD 5.70
- PolyPhen-2 0.00
- SIFT 0.83
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available