S133P (p.Ser133Pro) variant of MMAB (Q96EY8)
S133P (p.Ser133Pro) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S133P (p.Ser133Pro) variant details
- p.Ser133Pro
- ESP rs149342750
- ExAC rs149342750
- TOPMed rs149342750
- gnomAD rs149342750
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.22
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available