H14N (p.His14Asn) variant of MMUT (P22033)
H14N (p.His14Asn) in MMUT (P22033) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
H14N (p.His14Asn) variant details
- p.His14Asn
- ExAC rs745369199
- gnomAD rs745369199
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.21
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0021)
- Structural context available