L42V (p.Leu42Val) variant of CALCA (P06881)
L42V (p.Leu42Val) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
L42V (p.Leu42Val) variant details
- p.Leu42Val
- ExAC rs782336914
- TOPMed rs782336914
- gnomAD rs782336914
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.20
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)