K64Q (p.Lys64Gln) variant of MMAA (Q8IVH4)
K64Q (p.Lys64Gln) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K64Q (p.Lys64Gln) variant details
- p.Lys64Gln
- gnomAD 4-145639329-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available