P30S (p.Pro30Ser) variant of ACVR1 (Activin receptor type-1)
P30S (p.Pro30Ser) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- TOPMed rs1686471471
- gnomAD rs1686471471
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.21
- CADD 9.76
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available