D28N (p.Asp28Asn) variant of PRMT5 (O14744)
D28N (p.Asp28Asn) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
D28N (p.Asp28Asn) variant details
- p.Asp28Asn
- cosmic curated COSV10803
- TOPMed rs1453575996
- gnomAD rs1453575996
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.05
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available