L179P (p.Leu179Pro) variant of PICALM (Q13492)
L179P (p.Leu179Pro) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
L179P (p.Leu179Pro) variant details
- p.Leu179Pro
- ExAC rs765338634
- gnomAD rs765338634
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.70
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available