S31C (p.Ser31Cys) variant of SMARCA4 (P51532)
S31C (p.Ser31Cys) in SMARCA4 (P51532) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S31C (p.Ser31Cys) variant details
- p.Ser31Cys
- Ensembl rs2145722956
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.58
- CADD 26.10
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available