H31Q (p.His31Gln) variant of CSRP3 (P50461)
H31Q (p.His31Gln) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
H31Q (p.His31Gln) variant details
- p.His31Gln
- rs863225265
- ClinGen CA279625
- ClinVar RCV000201925
- ClinVar RCV001231161
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.90
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 12; Dilate)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)