D31N (p.Asp31Asn) variant of KCNJ5 (P48544)
D31N (p.Asp31Asn) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Cardiovascular phenotype; Familial hyperaldosteronism type III. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D31N (p.Asp31Asn) variant details
- p.Asp31Asn
- cosmic curated COSV57971
- TOPMed rs951592894
- gnomAD rs951592894
- Conflicting interpretations
- not provided; Cardiovascular phenotype; Familial hyperaldosteronism type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.31
- MetaLR 0.60
- MetaSVM 0.26
- CADD 23.20
- PolyPhen-2 0.45
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; Cardiovascular phenotype; Familial hyperaldosteron)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available