L27P (p.Leu27Pro) variant of MMAB (Q96EY8)
L27P (p.Leu27Pro) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- gnomAD rs1295581786
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available