L42R (p.Leu42Arg) variant of LAMP2 (P13473)
L42R (p.Leu42Arg) in LAMP2 (P13473) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L42R (p.Leu42Arg) variant details
- p.Leu42Arg
- gnomAD rs1439051161
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.61
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available