S12P (p.Ser12Pro) variant of LAMP2 (P13473)
S12P (p.Ser12Pro) in LAMP2 (P13473) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
S12P (p.Ser12Pro) variant details
- p.Ser12Pro
- ESP rs367914423
- ExAC rs367914423
- TOPMed rs367914423
- gnomAD rs367914423
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.13
- CADD 19.30
- PolyPhen-2 0.45
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.8e-05)