V17I (p.Val17Ile) variant of CSRP3 (P50461)
V17I (p.Val17Ile) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CSRP3-related disorder; Cardiovascular phenotype; Hypertrophic cardiomyopathy 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
V17I (p.Val17Ile) variant details
- p.Val17Ile
- rs767932680
- ClinGen CA5916680
- cosmic curated COSV56389
- ClinVar RCV000614107
- Uncertain significance
- CSRP3-related disorder; Cardiovascular phenotype; Hypertrophic cardiomyopathy 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.49
- CADD 24.90
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (CSRP3-related disorder; Cardiovascular phenotype; Hypertrophic c)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00024)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)