S69F (p.Ser69Phe) variant of PRMT5 (O14744)
S69F (p.Ser69Phe) 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.
S69F (p.Ser69Phe) variant details
- p.Ser69Phe
- rs754610214
- gnomAD 14-22920715-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- CADD 15.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available