I91V (p.Ile91Val) variant of ANKRD1 (Q15327)
I91V (p.Ile91Val) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
I91V (p.Ile91Val) variant details
- p.Ile91Val
- rs773244166
- ClinGen CA5598804
- ClinVar RCV002437465
- ExAC rs773244166
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.07
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available