P64L (p.Pro64Leu) variant of PPP2R5D (Q14738)
P64L (p.Pro64Leu) in PPP2R5D (Q14738) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P64L (p.Pro64Leu) variant details
- p.Pro64Leu
- rs1000620573
- NCI-TCGA Cosmic COSV5783
- cosmic curated COSV57839
- TOPMed rs1000620573
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.27
- CADD 23.00
- PolyPhen-2 0.44
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available