P296R (p.Pro296Arg) variant of SMC1A (Q14683)
P296R (p.Pro296Arg) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P296R (p.Pro296Arg) variant details
- p.Pro296Arg
- rs146216425
- gnomAD X-53380647-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 7.34
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available