P120T (p.Pro120Thr) variant of PRMT5 (O14744)
P120T (p.Pro120Thr) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P120T (p.Pro120Thr) variant details
- p.Pro120Thr
- ESP rs373616180
- ExAC rs373616180
- TOPMed rs373616180
- gnomAD rs373616180
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.38
- CADD 22.80
- PolyPhen-2 0.31
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available