V65F (p.Val65Phe) variant of ACVR1 (Activin receptor type-1)
V65F (p.Val65Phe) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
V65F (p.Val65Phe) variant details
- p.Val65Phe
- 1000Genomes rs370028017
- ESP rs370028017
- ExAC rs370028017
- TOPMed rs370028017
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.57
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.08
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available