L18M (p.Leu18Met) variant of CALCA (P06881)
L18M (p.Leu18Met) in CALCA (P06881) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- rs144571175
- ClinGen CA5896988
- ClinVar RCV004434489
- ESP rs144571175
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.05
- CADD 18.10
- PolyPhen-2 0.18
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.0014)