A20V (p.Ala20Val) variant of ANKRD1 (Q15327)
A20V (p.Ala20Val) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- ExAC rs775935256
- TOPMed rs775935256
- gnomAD rs775935256
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.09
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available