G10S (p.Gly10Ser) variant of PRMT5 (O14744)
G10S (p.Gly10Ser) in PRMT5 (O14744) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G10S (p.Gly10Ser) variant details
- p.Gly10Ser
- ExAC rs766938287
- gnomAD rs766938287
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.04
- CADD 34.00
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available