S50L (p.Ser50Leu) variant of MMAB (Q96EY8)
S50L (p.Ser50Leu) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S50L (p.Ser50Leu) variant details
- p.Ser50Leu
- rs375412819
- cosmic curated COSV99904
- ESP rs375412819
- ExAC rs375412819
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 9.95
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available