S17C (p.Ser17Cys) variant of SMARCA4 (P51532)
S17C (p.Ser17Cys) in SMARCA4 (P51532) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
S17C (p.Ser17Cys) variant details
- p.Ser17Cys
- gnomAD 19-10984201-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.57
- CADD 25.80
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available