P53A (p.Pro53Ala) variant of PPP2R5D (Q14738)
P53A (p.Pro53Ala) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P53A (p.Pro53Ala) variant details
- p.Pro53Ala
- gnomAD 6-43006514-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.04
- CADD 5.05
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available