A22T (p.Ala22Thr) variant of MCCC2 (Q9HCC0)
A22T (p.Ala22Thr) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- gnomAD 5-71587489-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.21
- CADD 7.93
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available