P52T (p.Pro52Thr) variant of ANKRD1 (Q15327)
P52T (p.Pro52Thr) in ANKRD1 (Q15327) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P52T (p.Pro52Thr) variant details
- p.Pro52Thr
- ExAC rs397517248
- TOPMed rs397517248
- gnomAD rs397517248
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.07
- CADD 9.04
- PolyPhen-2 0.00
- SIFT 0.69
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available