V65I (p.Val65Ile) variant of ACVR1 (Activin receptor type-1)
V65I (p.Val65Ile) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V65I (p.Val65Ile) variant details
- p.Val65Ile
- rs370028017
- ClinGen CA1919206
- cosmic curated COSV55116
- ClinVar RCV002631244
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.27
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available