A314T (p.Ala314Thr) variant of SMC1A (Q14683)
A314T (p.Ala314Thr) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A314T (p.Ala314Thr) variant details
- p.Ala314Thr
- gnomAD rs2075715405
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.22
- MetaSVM -0.81
- CADD 19.30
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available