P34R (p.Pro34Arg) variant of ACTC1 (Actin, alpha cardiac muscle 1)
P34R (p.Pro34Arg) in ACTC1 (Actin, alpha cardiac muscle 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P34R (p.Pro34Arg) variant details
- p.Pro34Arg
- rs1373760624
- ClinGen CA391633109
- ClinVar RCV001341397
- ClinVar RCV002368125
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.97
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.10
- CADD 29.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 11; Dilate)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)