P30S (p.Pro30Ser) variant of ACVRL1 (Activin receptor type-1-like)
P30S (p.Pro30Ser) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Telangiectasia, hereditary hemorrhagic, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- rs149664056
- ClinGen CA211326
- cosmic curated COSV66360
- ClinVar RCV000148355
- Likely benign
- Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.50
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Likely benign (Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Likely benign (in dbSNP:rs149664056)
- UniProt: Likely benign (in dbSNP:rs149664056)
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Cited in: Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for… (PMID 16752392)
- Cited in: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)