S93I (p.Ser93Ile) variant of MMAB (Q96EY8)
S93I (p.Ser93Ile) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
S93I (p.Ser93Ile) variant details
- p.Ser93Ile
- Ensembl rs1422698047
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.67
- CADD 27.10
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available