M48I (p.Met48Ile) variant of LAMP2 (P13473)
M48I (p.Met48Ile) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar 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 0.36 / 1. The record also includes population frequency data and structural context.
M48I (p.Met48Ile) variant details
- p.Met48Ile
- NCI-TCGA TCGA novel
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.12
- CADD 24.40
- PolyPhen-2 0.47
- SIFT 0.02
- ClinVar: Likely benign (Cardiovascular phenotype)
- UniProt: Likely benign
- Population evidence available
- Structural context available