V124F (p.Val124Phe) variant of ACVR1 (Activin receptor type-1)
V124F (p.Val124Phe) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V124F (p.Val124Phe) variant details
- p.Val124Phe
- ExAC rs748870121
- gnomAD rs748870121
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.28
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available