V11A (p.Val11Ala) variant of PPM1D (Protein phosphatase 1D)
V11A (p.Val11Ala) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V11A (p.Val11Ala) variant details
- p.Val11Ala
- TOPMed rs1476949755
- gnomAD rs1476949755
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.07
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available