C79W (p.Cys79Trp) variant of LAMP2 (P13473)
C79W (p.Cys79Trp) in LAMP2 (P13473) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
C79W (p.Cys79Trp) variant details
- p.Cys79Trp
- rs2147286906
- ClinGen CA414403381
- ClinVar RCV001772371
- Ensembl rs2147286906
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.51
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available