P122A (p.Pro122Ala) variant of ANKRD1 (Q15327)
P122A (p.Pro122Ala) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; ANKRD1-related dilated cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P122A (p.Pro122Ala) variant details
- p.Pro122Ala
- rs756392442
- ClinGen CA5598745
- ClinVar RCV000705569
- ClinVar RCV002458313
- Conflicting interpretations
- not provided; ANKRD1-related dilated cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.04
- AlphaMissense 0.08
- MetaLR 0.12
- MetaSVM -1.03
- CADD 16.60
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; ANKRD1-related dilated cardiomyopathy; Cardiovascu)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 7.5e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)