V34L (p.Val34Leu) variant of SLC6A1 (P30531)
V34L (p.Val34Leu) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V34L (p.Val34Leu) variant details
- p.Val34Leu
- ExAC rs772101722
- gnomAD rs772101722
- cosmic curated COSV10637
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.10
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.32
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available