H24T (p.His24Thr) variant of MCCC2 (Q9HCC0)
H24T (p.His24Thr) in MCCC2 (Q9HCC0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
H24T (p.His24Thr) variant details
- p.His24Thr
- gnomAD 5-71587494-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 26.70
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available