D39N (p.Asp39Asn) variant of PRMT5 (O14744)
D39N (p.Asp39Asn) in PRMT5 (O14744) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
D39N (p.Asp39Asn) variant details
- p.Asp39Asn
- NCI-TCGA Cosmic COSV5354
- NCI-TCGA Cosmic COSV9936
- cosmic curated COSV99363
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.29
- CADD 32.00
- PolyPhen-2 0.83
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available