P30L (p.Pro30Leu) variant of ACVRL1 (Activin receptor type-1-like)
P30L (p.Pro30Leu) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- rs765215717
- cosmic curated COSV10532
- ExAC rs765215717
- gnomAD rs765215717
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.19
- CADD 9.85
- PolyPhen-2 0.00
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact. (in dbSNP:rs149664056)
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available