S20N (p.Ser20Asn) variant of ACVR1 (Activin receptor type-1)
S20N (p.Ser20Asn) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S20N (p.Ser20Asn) variant details
- p.Ser20Asn
- gnomAD rs1383193990
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.16
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available