S29N (p.Ser29Asn) variant of CSRP3 (P50461)
S29N (p.Ser29Asn) 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; Hypertrophic cardiomyopathy 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S29N (p.Ser29Asn) variant details
- p.Ser29Asn
- rs372717179
- ClinGen CA335100
- ClinVar RCV000200582
- ClinVar RCV001704876
- Uncertain significance
- not provided; Cardiovascular phenotype; Hypertrophic cardiomyopathy 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.53
- CADD 25.10
- PolyPhen-2 0.84
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Hypertrophic cardiomyopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)