A127P (p.Ala127Pro) variant of ANKRD1 (Q15327)
A127P (p.Ala127Pro) in ANKRD1 (Q15327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
A127P (p.Ala127Pro) variant details
- p.Ala127Pro
- gnomAD rs1166773924
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.76
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available