P245L (p.Pro245Leu) variant of SMN1 (Survival motor neuron protein)
P245L (p.Pro245Leu) in SMN1 (Survival motor neuron protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in SMA3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and published literature.
P245L (p.Pro245Leu) variant details
- p.Pro245Leu
- rs75586164
- gnomAD rs75586164
- UniProt VAR 010051
- Pathogenic
- in SMA3
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.84
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Pathogenic (in SMA3)
- UniProt: Pathogenic (in SMA3)
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Cited in: Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7. (PMID 10732817)
- Cited in: Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress. (PMID 14715275)