K39R (p.Lys39Arg) variant of PICALM (Q13492)
K39R (p.Lys39Arg) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K39R (p.Lys39Arg) variant details
- p.Lys39Arg
- ExAC rs757415973
- gnomAD rs757415973
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.16
- CADD 25.30
- PolyPhen-2 0.32
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available