T33M (p.Thr33Met) variant of CSRP3 (P50461)
T33M (p.Thr33Met) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1M. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
T33M (p.Thr33Met) variant details
- p.Thr33Met
- rs758947977
- ClinGen CA5916672
- NCI-TCGA Cosmic COSV9978
- cosmic curated COSV99788
- Uncertain significance
- not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1M
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.36
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.39
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)