Q76P (p.Gln76Pro) variant of ACVR1 (Activin receptor type-1)
Q76P (p.Gln76Pro) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
Q76P (p.Gln76Pro) variant details
- p.Gln76Pro
- ExAC rs763961607
- gnomAD rs763961607
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.91
- CADD 28.50
- PolyPhen-2 0.96
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available