F21V (p.Phe21Val) variant of SMN1 (Survival motor neuron protein)
F21V (p.Phe21Val) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
F21V (p.Phe21Val) variant details
- p.Phe21Val
- gnomAD 5-70049746-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.79
- CADD 27.00
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available