M263V (p.Met263Val) variant of SMN1 (Survival motor neuron protein)
M263V (p.Met263Val) 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 and structural context.
M263V (p.Met263Val) variant details
- p.Met263Val
- gnomAD rs1354905416
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.85
- CADD 22.20
- PolyPhen-2 0.22
- SIFT 0.06
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available