K32R (p.Lys32Arg) variant of CSRP3 (P50461)
K32R (p.Lys32Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
K32R (p.Lys32Arg) variant details
- p.Lys32Arg
- rs2133516292
- ClinGen CA379888503
- ClinVar RCV001552173
- ClinVar RCV005209547
- Uncertain significance
- Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- AlphaMissense 0.11
- MetaLR 0.62
- MetaSVM -0.03
- PolyPhen-2 0.02
- SIFT 0.26
- EVE 0.27
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12; not p)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)