T3T (p.Thr3Thr) variant of SMARCA4 (P51532)
T3T (p.Thr3Thr) in SMARCA4 (P51532) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
T3T (p.Thr3Thr) variant details
- p.Thr3Thr
- rs764639389
- gnomAD 19-10984160-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.149
- CADD 9.71
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available
- Literature evidence available