T18I (p.Thr18Ile) variant of PPP2R5D (Q14738)
T18I (p.Thr18Ile) in PPP2R5D (Q14738) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
T18I (p.Thr18Ile) variant details
- p.Thr18Ile
- Ensembl rs2150251136
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -1.12
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the HGDP:HAZARA population (allele frequency 0.031)
- Structural context available