S2Y (p.Ser2Tyr) variant of CHEK2 (O96017)
S2Y (p.Ser2Tyr) in CHEK2 (O96017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S2Y (p.Ser2Tyr) variant details
- p.Ser2Tyr
- cosmic curated COSV60421
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.35
- CADD 24.80
- PolyPhen-2 0.55
- SIFT 0.00
- Population evidence available
- Structural context available