A39G (p.Ala39Gly) variant of CSRP3 (P50461)
A39G (p.Ala39Gly) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M; Cardiovascular phenot. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A39G (p.Ala39Gly) variant details
- p.Ala39Gly
- rs748417030
- ClinGen CA5916644
- ClinVar RCV001243536
- ExAC rs748417030
- Uncertain significance
- Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M; Cardiovascular phenot
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.34
- CADD 22.40
- PolyPhen-2 0.23
- SIFT 0.19
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M; Cardi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)