V17F (p.Val17Phe) variant of LAMP2 (P13473)
V17F (p.Val17Phe) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data.
V17F (p.Val17Phe) variant details
- p.Val17Phe
- rs777718603
- ClinVar RCV005405024
- ExAC rs777718603
- TOPMed rs777718603
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0929
- REVEL 0.01
- CADD 8.61
- PolyPhen-2 0.03
- SIFT 0.29
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3.2e-05)