V24A (p.Val24Ala) variant of LAMP2 (P13473)
V24A (p.Val24Ala) 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 0.19 / 1. The record also includes population frequency data.
V24A (p.Val24Ala) variant details
- p.Val24Ala
- rs2520913653
- ClinGen CA414403804
- ClinVar RCV002462470
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.02
- CADD 5.40
- PolyPhen-2 0.03
- SIFT 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available