T47A (p.Thr47Ala) variant of ANKRD1 (Q15327)
T47A (p.Thr47Ala) in ANKRD1 (Q15327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
T47A (p.Thr47Ala) variant details
- p.Thr47Ala
- TOPMed rs1847421185
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.06
- CADD 23.30
- PolyPhen-2 0.44
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available