A39V (p.Ala39Val) variant of LAMP2 (P13473)
A39V (p.Ala39Val) in LAMP2 (P13473) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- cosmic curated COSV10721
- TOPMed rs866456239
- gnomAD rs866456239
- Missense
- Variant Prioritization Score for Impact Estimate 0.0692
- REVEL 0.05
- CADD 4.45
- PolyPhen-2 0.22
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)