P120S (p.Pro120Ser) variant of PRMT5 (O14744)
P120S (p.Pro120Ser) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P120S (p.Pro120Ser) variant details
- p.Pro120Ser
- ESP rs373616180
- ExAC rs373616180
- TOPMed rs373616180
- gnomAD rs373616180
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.29
- CADD 22.70
- PolyPhen-2 0.31
- SIFT 0.30
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available