K13R (p.Lys13Arg) variant of PPP2R5D (Q14738)
K13R (p.Lys13Arg) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K13R (p.Lys13Arg) variant details
- p.Lys13Arg
- rs144675117
- ClinGen CA3811719
- ClinVar RCV003863001
- ESP rs144675117
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.14
- MetaLR 0.22
- MetaSVM -0.97
- CADD 23.20
- PolyPhen-2 0.19
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available