P57L (p.Pro57Leu) variant of PICALM (Q13492)
P57L (p.Pro57Leu) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P57L (p.Pro57Leu) variant details
- p.Pro57Leu
- TOPMed rs2095752639
- gnomAD rs2095752639
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.58
- CADD 28.20
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available