K20Q (p.Lys20Gln) variant of PPP2R5D (Q14738)
K20Q (p.Lys20Gln) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
K20Q (p.Lys20Gln) variant details
- p.Lys20Gln
- gnomAD 6-42989641-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.13
- MetaLR 0.17
- MetaSVM -1.05
- CADD 22.30
- PolyPhen-2 0.05
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available