A48T (p.Ala48Thr) variant of PPP2R5D (Q14738)
A48T (p.Ala48Thr) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A48T (p.Ala48Thr) variant details
- p.Ala48Thr
- gnomAD 6-43006499-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.01
- CADD 3.68
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available