N6S (p.Asn6Ser) variant of MMUT (P22033)
N6S (p.Asn6Ser) in MMUT (P22033) 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.
N6S (p.Asn6Ser) variant details
- p.Asn6Ser
- TOPMed rs1049797121
- gnomAD rs1049797121
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.25
- CADD 9.47
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available