T63K (p.Thr63Lys) variant of PPP2R5D (Q14738)
T63K (p.Thr63Lys) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T63K (p.Thr63Lys) variant details
- p.Thr63Lys
- gnomAD 6-43006545-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.15
- CADD 16.70
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available