P8R (p.Pro8Arg) variant of LAMP2 (P13473)
P8R (p.Pro8Arg) 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 0.37 / 1.
P8R (p.Pro8Arg) variant details
- p.Pro8Arg
- rs878854484
- ClinGen CA414398000
- NCI-TCGA Cosmic COSV5235
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- AlphaMissense 0.10
- MetaLR 0.23
- MetaSVM -0.90
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.60
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance