N100S (p.Asn100Ser) variant of ACVR1 (Activin receptor type-1)
N100S (p.Asn100Ser) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
N100S (p.Asn100Ser) variant details
- p.Asn100Ser
- ExAC rs747439148
- gnomAD rs747439148
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.84
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available