V29A (p.Val29Ala) variant of PPM1D (Protein phosphatase 1D)
V29A (p.Val29Ala) in PPM1D (Protein phosphatase 1D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V29A (p.Val29Ala) variant details
- p.Val29Ala
- TOPMed rs1219384750
- gnomAD rs1219384750
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.07
- CADD 27.00
- PolyPhen-2 0.76
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available