Q83P (p.Gln83Pro) variant of MMAA (Q8IVH4)
Q83P (p.Gln83Pro) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
Q83P (p.Gln83Pro) variant details
- p.Gln83Pro
- gnomAD 4-145639387-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.31
- CADD 22.40
- PolyPhen-2 0.09
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available