V52A (p.Val52Ala) variant of LAMP2 (P13473)
V52A (p.Val52Ala) in LAMP2 (P13473) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
V52A (p.Val52Ala) variant details
- p.Val52Ala
- NCI-TCGA Cosmic COSV9956
- cosmic curated COSV99568
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.23
- CADD 23.00
- PolyPhen-2 0.34
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available