F21L (p.Phe21Leu) variant of SMN1 (Survival motor neuron protein)
F21L (p.Phe21Leu) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
F21L (p.Phe21Leu) variant details
- p.Phe21Leu
- gnomAD rs1448525953
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.75
- CADD 24.40
- PolyPhen-2 0.82
- SIFT 0.07
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available