N127K (p.Asn127Lys) variant of PRMT5 (O14744)
N127K (p.Asn127Lys) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N127K (p.Asn127Lys) variant details
- p.Asn127Lys
- 1000Genomes rs545739459
- ExAC rs545739459
- gnomAD rs545739459
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.10
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.86
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available