G95V (p.Gly95Val) variant of LAMP2 (P13473)
G95V (p.Gly95Val) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Danon disease; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and published literature.
G95V (p.Gly95Val) variant details
- p.Gly95Val
- rs755790073
- ClinGen CA10505324
- ClinVar RCV001928539
- ClinVar RCV002441029
- Uncertain significance
- Danon disease; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.14
- CADD 16.40
- PolyPhen-2 0.09
- SIFT 0.04
- ClinVar: Uncertain significance (Danon disease; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.6e-05)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)
- Cited in: Danon Disease. (PMID 32134616)