Q35H (p.Gln35His) variant of SLC6A1 (P30531)
Q35H (p.Gln35His) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q35H (p.Gln35His) variant details
- p.Gln35His
- gnomAD 3-11017316-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.24
- CADD 22.20
- PolyPhen-2 0.28
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available