Q3H (p.Gln3His) variant of SPTBN4 (Q9H254)
Q3H (p.Gln3His) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q3H (p.Gln3His) variant details
- p.Gln3His
- cosmic curated COSV58946
- ExAC rs747766613
- TOPMed rs747766613
- gnomAD rs747766613
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.00033)
- Structural context available