P26S (p.Pro26Ser) variant of ACVR1 (Activin receptor type-1)
P26S (p.Pro26Ser) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P26S (p.Pro26Ser) variant details
- p.Pro26Ser
- rs377197386
- ClinGen CA1919226
- ClinVar RCV001923880
- ClinVar RCV004758203
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.19
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00039)
- Structural context available