L17P (p.Leu17Pro) variant of CALCA (P06881)
L17P (p.Leu17Pro) 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 0.43 / 1. The record also includes population frequency data.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- ESP rs371778314
- ExAC rs371778314
- TOPMed rs371778314
- gnomAD rs371778314
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.27
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00019)