F7L (p.Phe7Leu) variant of LAMP2 (P13473)
F7L (p.Phe7Leu) 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 0.34 / 1.
F7L (p.Phe7Leu) variant details
- p.Phe7Leu
- rs1921666449
- ClinGen CA414398025
- ClinVar RCV004513483
- gnomAD rs1921666449
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- AlphaMissense 0.25
- MetaLR 0.06
- MetaSVM -1.03
- PolyPhen-2 0.01
- SIFT 0.65
- MutPred 0.26
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign