S18A (p.Ser18Ala) variant of ACVR1 (Activin receptor type-1)
S18A (p.Ser18Ala) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S18A (p.Ser18Ala) variant details
- p.Ser18Ala
- ExAC rs745444504
- gnomAD rs745444504
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.15
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available