N58S (p.Asn58Ser) variant of LAMP2 (P13473)
N58S (p.Asn58Ser) in LAMP2 (P13473) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data.
N58S (p.Asn58Ser) variant details
- p.Asn58Ser
- TOPMed rs1294027053
- gnomAD rs1294027053
- Missense
- Variant Prioritization Score for Impact Estimate 0.0574
- REVEL 0.04
- CADD 1.09
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available