L36V (p.Leu36Val) variant of SLC18A2 (Q05940)
L36V (p.Leu36Val) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L36V (p.Leu36Val) variant details
- p.Leu36Val
- gnomAD 10-117241799-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available