P2S (p.Pro2Ser) variant of PPP2R5D (Q14738)
P2S (p.Pro2Ser) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- cosmic curated COSV10436
- TOPMed rs1029888036
- gnomAD rs1029888036
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.08
- MetaLR 0.15
- MetaSVM -0.96
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available