S2L (p.Ser2Leu) variant of SMARCE1 (Q969G3)
S2L (p.Ser2Leu) in SMARCE1 (Q969G3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S2L (p.Ser2Leu) variant details
- p.Ser2Leu
- cosmic curated COSV62176
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.24
- CADD 33.00
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- SMARCE1 High mobility group box domain domainome 1.0: score -0.141