I72T (p.Ile72Thr) variant of PPP2R5D (Q14738)
I72T (p.Ile72Thr) 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, published literature, and structural context.
I72T (p.Ile72Thr) variant details
- p.Ile72Thr
- gnomAD 6-43006572-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.09
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available