P25L (p.Pro25Leu) variant of ANKRD1 (Q15327)
P25L (p.Pro25Leu) 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 0.47 / 1. The record also includes population frequency data and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- gnomAD rs1191329876
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.29
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.06
- 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