Y54H (p.Tyr54His) variant of LAMP2 (P13473)
Y54H (p.Tyr54His) in LAMP2 (P13473) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
Y54H (p.Tyr54His) variant details
- p.Tyr54His
- cosmic curated COSV10456
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.60
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available