K31R (p.Lys31Arg) variant of ACVR1 (Activin receptor type-1)
K31R (p.Lys31Arg) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
K31R (p.Lys31Arg) variant details
- p.Lys31Arg
- rs547743970
- ClinGen CA1919224
- cosmic curated COSV55117
- ClinVar RCV002654274
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.17
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available