P2Q (p.Pro2Gln) variant of CSRP3 (P50461)
P2Q (p.Pro2Gln) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P2Q (p.Pro2Gln) variant details
- p.Pro2Gln
- rs762730416
- ClinGen CA5916691
- ClinVar RCV002943155
- ExAC rs762730416
- Uncertain significance
- Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.46
- CADD 26.00
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)