A50P (p.Ala50Pro) variant of ANKRD1 (Q15327)
A50P (p.Ala50Pro) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A50P (p.Ala50Pro) variant details
- p.Ala50Pro
- rs28730751
- ClinGen CA136820
- ClinVar RCV000038843
- ClinVar RCV000250806
- Benign/Likely benign
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.06
- AlphaMissense 0.07
- MetaLR 0.11
- MetaSVM -1.01
- CADD 14.40
- PolyPhen-2 0.00
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)