P46T (p.Pro46Thr) variant of MMAB (Q96EY8)
P46T (p.Pro46Thr) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P46T (p.Pro46Thr) variant details
- p.Pro46Thr
- gnomAD rs1208127660
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 14.10
- PolyPhen-2 0.04
- SIFT 0.10
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available