L42V (p.Leu42Val) variant of PICALM (Q13492)
L42V (p.Leu42Val) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L42V (p.Leu42Val) variant details
- p.Leu42Val
- ExAC rs759002840
- TOPMed rs759002840
- gnomAD rs759002840
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.18
- CADD 23.80
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available