T305I (p.Thr305Ile) variant of SMC1A (Q14683)
T305I (p.Thr305Ile) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T305I (p.Thr305Ile) variant details
- p.Thr305Ile
- rs2075578868
- gnomAD X-53380656-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- ESM-1b 1.00
- AlphaMissense 0.89
- CADD 9.23
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available