Y27S (p.Tyr27Ser) variant of LAMP2 (P13473)
Y27S (p.Tyr27Ser) in LAMP2 (P13473) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
Y27S (p.Tyr27Ser) variant details
- p.Tyr27Ser
- gnomAD rs1449153826
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.15
- AlphaMissense 0.10
- MetaLR 0.11
- MetaSVM -0.99
- CADD 9.14
- PolyPhen-2 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 6.7e-05)