P30A (p.Pro30Ala) variant of NTHL1 (Endonuclease III-like protein 1)
P30A (p.Pro30Ala) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P30A (p.Pro30Ala) variant details
- p.Pro30Ala
- rs541004726
- ClinGen CA027398
- ClinVar RCV001054452
- ClinVar RCV002320298
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 16.30
- PolyPhen-2 0.04
- SIFT 0.09
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)