P42L (p.Pro42Leu) variant of SLC18A2 (Q05940)
P42L (p.Pro42Leu) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- gnomAD 10-117243974-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- CADD 27.10
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available