H47R (p.His47Arg) variant of ACVR1 (Activin receptor type-1)
H47R (p.His47Arg) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
H47R (p.His47Arg) variant details
- p.His47Arg
- cosmic curated COSV10722
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.26
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available