N133S (p.Asn133Ser) variant of PRMT5 (O14744)
N133S (p.Asn133Ser) in PRMT5 (O14744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
N133S (p.Asn133Ser) variant details
- p.Asn133Ser
- ExAC rs762341644
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.27
- CADD 25.30
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available