L48V (p.Leu48Val) variant of ATP1A1 (P05023)
L48V (p.Leu48Val) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
L48V (p.Leu48Val) variant details
- p.Leu48Val
- gnomAD 1-116384801-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.33
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the HGDP:MANDENKA population (allele frequency 0.33)
- Structural context available
- Literature evidence available