V221A (p.Val221Ala) variant of SMC1A (Q14683)
V221A (p.Val221Ala) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V221A (p.Val221Ala) variant details
- p.Val221Ala
- cosmic curated COSV10962
- gnomAD rs2075719772
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.60
- MetaLR 0.32
- MetaSVM -0.50
- CADD 23.30
- Most common in the Latino/Admixed American population (allele frequency 9.6e-05)
- Structural context available