P29Q (p.Pro29Gln) variant of MCCC1 (Q96RQ3)
P29Q (p.Pro29Gln) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P29Q (p.Pro29Gln) variant details
- p.Pro29Gln
- gnomAD rs1718982873
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.36
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available