P46S (p.Pro46Ser) variant of MMAB (Q96EY8)
P46S (p.Pro46Ser) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P46S (p.Pro46Ser) variant details
- p.Pro46Ser
- gnomAD rs1208127660
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available