A36V (p.Ala36Val) variant of ANKRD1 (Q15327)
A36V (p.Ala36Val) in ANKRD1 (Q15327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A36V (p.Ala36Val) variant details
- p.Ala36Val
- ExAC rs771582860
- gnomAD rs771582860
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.24
- CADD 24.40
- PolyPhen-2 0.45
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available