K73R (p.Lys73Arg) variant of PPP2R5D (Q14738)
K73R (p.Lys73Arg) 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 0.33 / 1. The record also includes population frequency data and structural context.
K73R (p.Lys73Arg) variant details
- p.Lys73Arg
- rs776953962
- ClinGen CA3811775
- ClinVar RCV003831183
- ExAC rs776953962
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.13
- CADD 23.10
- PolyPhen-2 0.30
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available