P37S (p.Pro37Ser) variant of BAG3 (O95817)
P37S (p.Pro37Ser) in BAG3 (O95817) 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 1HH. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- rs764177199
- ClinGen CA5716218
- ClinVar RCV001043205
- ClinVar RCV001759749
- Uncertain significance
- not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1HH
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.63
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.108
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)