P127S (p.Pro127Ser) variant of LAMP2 (P13473)
P127S (p.Pro127Ser) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1.
P127S (p.Pro127Ser) variant details
- p.Pro127Ser
- rs2147286737
- ClinGen CA414402756
- ClinVar RCV001754969
- Ensembl rs2147286737
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- AlphaMissense 0.20
- MetaLR 0.76
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.49
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance