I14N (p.Ile14Asn) variant of MUTYH (Adenine DNA glycosylase)
I14N (p.Ile14Asn) in MUTYH (Adenine DNA glycosylase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial adenomatous polyposis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I14N (p.Ile14Asn) variant details
- p.Ile14Asn
- ExAC rs758220894
- gnomAD rs758220894
- Uncertain significance
- Familial adenomatous polyposis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 22.30
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Familial adenomatous polyposis 2)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available