S69C (p.Ser69Cys) variant of PRMT5 (O14744)
S69C (p.Ser69Cys) 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, published literature, and structural context.
S69C (p.Ser69Cys) variant details
- p.Ser69Cys
- rs754610214
- gnomAD 14-22920715-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- CADD 14.80
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Literature evidence available