H273P (p.His273Pro) variant of SMN1 (Survival motor neuron protein)
H273P (p.His273Pro) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
H273P (p.His273Pro) variant details
- p.His273Pro
- gnomAD 5-70070735-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.96
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available