Q40P (p.Gln40Pro) variant of ADNP (Q9H2P0)
Q40P (p.Gln40Pro) in ADNP (Q9H2P0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q40P (p.Gln40Pro) variant details
- p.Gln40Pro
- cosmic curated COSV10082
- ExAC rs779504010
- TOPMed rs779504010
- gnomAD rs779504010
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 24.10
- PolyPhen-2 0.53
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- ADNP Homeobox domain domainome 1.0: score -0.137