K26Q (p.Lys26Gln) variant of PPP2R5D (Q14738)
K26Q (p.Lys26Gln) in PPP2R5D (Q14738) is a missense change. 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.
K26Q (p.Lys26Gln) variant details
- p.Lys26Gln
- Ensembl rs2150251166
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.12
- MetaLR 0.18
- MetaSVM -1.04
- CADD 23.90
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available