H20Y (p.His20Tyr) variant of MCCC1 (Q96RQ3)
H20Y (p.His20Tyr) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
H20Y (p.His20Tyr) variant details
- p.His20Tyr
- TOPMed rs1718987210
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.30
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.38
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available