Y27H (p.Tyr27His) variant of LAMP2 (P13473)
Y27H (p.Tyr27His) in LAMP2 (P13473) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data.
Y27H (p.Tyr27His) variant details
- p.Tyr27His
- cosmic curated COSV10801
- Missense
- Variant Prioritization Score for Impact Estimate 0.0995
- REVEL 0.05
- CADD 4.91
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the REMAINING population (allele frequency 2.3e-05)