K112E (p.Lys112Glu) variant of PICALM (Q13492)
K112E (p.Lys112Glu) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
K112E (p.Lys112Glu) variant details
- p.Lys112Glu
- gnomAD rs1276734217
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.47
- CADD 25.10
- PolyPhen-2 0.18
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available