L10H (p.Leu10His) variant of MMAB (Q96EY8)
L10H (p.Leu10His) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L10H (p.Leu10His) variant details
- p.Leu10His
- TOPMed rs1273536043
- gnomAD rs1273536043
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available