P27R (p.Pro27Arg) variant of SPAST (Spastin)
P27R (p.Pro27Arg) in SPAST (Spastin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P27R (p.Pro27Arg) variant details
- p.Pro27Arg
- gnomAD 2-32063911-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.21
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available