K15R (p.Lys15Arg) variant of CSRP3 (P50461)
K15R (p.Lys15Arg) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified; Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
K15R (p.Lys15Arg) variant details
- p.Lys15Arg
- TOPMed rs1308434550
- gnomAD rs1308434550
- Uncertain significance
- not specified; Dilated cardiomyopathy 1M; Hypertrophic cardiomyopathy 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.42
- CADD 22.50
- PolyPhen-2 0.17
- SIFT 0.17
- ClinVar: Uncertain significance (not specified; Dilated cardiomyopathy 1M; Hypertrophic cardiomyo)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available