H7H (p.His7His) variant of MMAA (Q8IVH4)
H7H (p.His7His) in MMAA (Q8IVH4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
H7H (p.His7His) variant details
- p.His7His
- rs921313777
- gnomAD 4-145639160-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.89
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available