Q3Q (p.Gln3Gln) variant of SPTBN4 (Q9H254)
Q3Q (p.Gln3Gln) in SPTBN4 (Q9H254) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Q3Q (p.Gln3Gln) variant details
- p.Gln3Gln
- rs747766613
- gnomAD 19-40472630-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 4.62
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available