A36D (p.Ala36Asp) variant of NTHL1 (Endonuclease III-like protein 1)
A36D (p.Ala36Asp) 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 0.65 / 1. The record also includes population frequency data and structural context.
A36D (p.Ala36Asp) variant details
- p.Ala36Asp
- rs772384035
- ClinGen CA394298249
- ClinVar RCV001890964
- ExAC rs772384035
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 15.30
- PolyPhen-2 0.16
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available