P105S (p.Pro105Ser) variant of ANKRD1 (Q15327)
P105S (p.Pro105Ser) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P105S (p.Pro105Ser) variant details
- p.Pro105Ser
- rs148189486
- ClinGen CA249989
- ClinVar RCV000172517
- ClinVar RCV000622147
- Conflicting interpretations
- Cardiovascular phenotype; not provided; ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.37
- CADD 20.60
- PolyPhen-2 0.30
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; ANKRD1-related dilated c)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00062)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)