D81V (p.Asp81Val) variant of LAMP2 (P13473)
D81V (p.Asp81Val) in LAMP2 (P13473) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
D81V (p.Asp81Val) variant details
- p.Asp81Val
- gnomAD rs1267770607
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.15
- CADD 22.30
- PolyPhen-2 0.16
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)