H8H (p.His8His) variant of TUBA1A (Tubulin alpha-1A chain)
H8H (p.His8His) in TUBA1A (Tubulin alpha-1A chain) 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.
H8H (p.His8His) variant details
- p.His8His
- rs143047732
- gnomAD 12-49186813-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 9.54
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available