N44S (p.Asn44Ser) variant of ACVR1 (Activin receptor type-1)
N44S (p.Asn44Ser) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N44S (p.Asn44Ser) variant details
- p.Asn44Ser
- TOPMed rs1321405252
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.32
- CADD 2.52
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available