T144I (p.Thr144Ile) variant of PRMT5 (O14744)
T144I (p.Thr144Ile) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T144I (p.Thr144Ile) variant details
- p.Thr144Ile
- TOPMed rs1237618888
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.15
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available