P17S (p.Pro17Ser) variant of NTHL1 (Endonuclease III-like protein 1)
P17S (p.Pro17Ser) 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 0.11 / 1. The record also includes population frequency data and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- rs1173561620
- ClinGen CA394298502
- ClinVar RCV003694056
- TOPMed rs1173561620
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- CADD 7.28
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available