H50H (p.His50His) variant of MMAA (Q8IVH4)
H50H (p.His50His) in MMAA (Q8IVH4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
H50H (p.His50His) variant details
- p.His50His
- rs2126617181
- gnomAD 4-145639289-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.117
- CADD 5.09
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available