Q95R (p.Gln95Arg) variant of ACVR1 (Activin receptor type-1)
Q95R (p.Gln95Arg) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q95R (p.Gln95Arg) variant details
- p.Gln95Arg
- gnomAD rs1367397338
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.33
- CADD 21.30
- PolyPhen-2 0.02
- SIFT 0.53
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available