T70N (p.Thr70Asn) variant of MMAA (Q8IVH4)
T70N (p.Thr70Asn) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
T70N (p.Thr70Asn) variant details
- p.Thr70Asn
- gnomAD 4-145639348-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.00
- PolyPhen-2 0.10
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available