V37A (p.Val37Ala) variant of ANKRD1 (Q15327)
V37A (p.Val37Ala) in ANKRD1 (Q15327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V37A (p.Val37Ala) variant details
- p.Val37Ala
- ExAC rs774292804
- TOPMed rs774292804
- gnomAD rs774292804
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.38
- CADD 22.90
- PolyPhen-2 0.08
- SIFT 0.07
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available