D131H (p.Asp131His) variant of LAMP2 (P13473)
D131H (p.Asp131His) 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 0.11 / 1. The record also includes population frequency data.
D131H (p.Asp131His) variant details
- p.Asp131His
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.05
- CADD 16.80
- PolyPhen-2 0.52
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 2.2e-05)