R35C (p.Arg35Cys) variant of MMAB (Q96EY8)
R35C (p.Arg35Cys) in MMAB (Q96EY8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R35C (p.Arg35Cys) variant details
- p.Arg35Cys
- Ensembl rs991822103
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available