L92S (p.Leu92Ser) variant of MMAB (Q96EY8)
L92S (p.Leu92Ser) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
L92S (p.Leu92Ser) variant details
- p.Leu92Ser
- ExAC rs778256928
- gnomAD rs778256928
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.90
- CADD 29.80
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available