P110S (p.Pro110Ser) variant of ANKRD1 (Q15327)
P110S (p.Pro110Ser) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P110S (p.Pro110Ser) variant details
- p.Pro110Ser
- rs200061926
- ClinGen CA237034
- ClinVar RCV000171872
- ClinVar RCV001852084
- Uncertain significance
- Cardiovascular phenotype; not provided; ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.30
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; ANKRD1-related dilated c)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)