S69N (p.Ser69Asn) variant of PRMT5 (O14744)
S69N (p.Ser69Asn) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S69N (p.Ser69Asn) variant details
- p.Ser69Asn
- rs2044255922
- gnomAD 14-22920724-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 14.80
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available