P46R (p.Pro46Arg) variant of MMAB (Q96EY8)
P46R (p.Pro46Arg) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P46R (p.Pro46Arg) variant details
- p.Pro46Arg
- gnomAD rs1884633131
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 15.40
- PolyPhen-2 0.17
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available