R25P (p.Arg25Pro) variant of LAMP2 (P13473)
R25P (p.Arg25Pro) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data.
R25P (p.Arg25Pro) variant details
- p.Arg25Pro
- rs750118236
- ClinGen CA414403801
- ClinVar RCV004513485
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.0961
- REVEL 0.13
- CADD 0.28
- PolyPhen-2 0.29
- SIFT 0.09
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.1e-05)