P52L (p.Pro52Leu) variant of ANKRD1 (Q15327)
P52L (p.Pro52Leu) in ANKRD1 (Q15327) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- gnomAD rs1443210840
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.11
- CADD 4.27
- PolyPhen-2 0.00
- SIFT 0.61
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available