L70V (p.Leu70Val) variant of SLC6A3 (Q01959)
L70V (p.Leu70Val) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
L70V (p.Leu70Val) variant details
- p.Leu70Val
- ExAC rs753530749
- TOPMed rs753530749
- gnomAD rs753530749
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.58
- MetaLR 0.54
- MetaSVM 0.11
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available