K51E (p.Lys51Glu) variant of MMAB (Q96EY8)
K51E (p.Lys51Glu) in MMAB (Q96EY8) is a missense change. 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.
K51E (p.Lys51Glu) variant details
- p.Lys51Glu
- Ensembl rs747948804
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available