P108S (p.Pro108Ser) variant of ACVR1 (Activin receptor type-1)
P108S (p.Pro108Ser) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
P108S (p.Pro108Ser) variant details
- p.Pro108Ser
- gnomAD rs1423804322
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.55
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available