P110Q (p.Pro110Gln) variant of ANKRD1 (Q15327)
P110Q (p.Pro110Gln) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P110Q (p.Pro110Gln) variant details
- p.Pro110Gln
- gnomAD rs1477558904
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.35
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available