P21L (p.Pro21Leu) variant of SPG7 (Q9UQ90)
P21L (p.Pro21Leu) in SPG7 (Q9UQ90) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- gnomAD rs1255749117
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available