R139K (p.Arg139Lys) variant of PICALM (Q13492)
R139K (p.Arg139Lys) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R139K (p.Arg139Lys) variant details
- p.Arg139Lys
- ExAC rs754558342
- gnomAD rs754558342
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.45
- CADD 26.80
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available