P42L (p.Pro42Leu) variant of PPP2R5D (Q14738)
P42L (p.Pro42Leu) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- 1000Genomes rs544371066
- ExAC rs544371066
- gnomAD rs544371066
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.07
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available