R48K (p.Arg48Lys) variant of PSEN2 (Presenilin-2)
R48K (p.Arg48Lys) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R48K (p.Arg48Lys) variant details
- p.Arg48Lys
- Ensembl rs2102672058
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.35
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available