V64I (p.Val64Ile) variant of LAMP2 (P13473)
V64I (p.Val64Ile) in LAMP2 (P13473) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data.
V64I (p.Val64Ile) variant details
- p.Val64Ile
- gnomAD rs1921058018
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.02
- CADD 5.92
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the South Asian population (allele frequency 0.00039)