D162Y (p.Asp162Tyr) variant of PRMT5 (O14744)
D162Y (p.Asp162Tyr) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D162Y (p.Asp162Tyr) variant details
- p.Asp162Tyr
- ExAC rs765726296
- TOPMed rs765726296
- gnomAD rs765726296
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.25
- CADD 24.90
- PolyPhen-2 0.45
- SIFT 0.06
- Most common in the HGDP:HEZHEN population (allele frequency 0.062)
- Structural context available