K81T (p.Lys81Thr) variant of MMAA (Q8IVH4)
K81T (p.Lys81Thr) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K81T (p.Lys81Thr) variant details
- p.Lys81Thr
- 1000Genomes rs532407633
- ExAC rs532407633
- TOPMed rs532407633
- gnomAD rs532407633
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 23.20
- PolyPhen-2 0.15
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available