P45A (p.Pro45Ala) variant of CHD2 (O14647)
P45A (p.Pro45Ala) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P45A (p.Pro45Ala) variant details
- p.Pro45Ala
- rs1191320279
- gnomAD 15-92904947-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- CADD 8.53
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available