S119N (p.Ser119Asn) variant of MMUT (P22033)
S119N (p.Ser119Asn) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
S119N (p.Ser119Asn) variant details
- p.Ser119Asn
- gnomAD rs1767768403
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.87
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available