P8L (p.Pro8Leu) variant of BMPR2 (Q13873)
P8L (p.Pro8Leu) in BMPR2 (Q13873) 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 0.30 / 1. The record also includes population frequency data and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- NCI-TCGA Cosmic COSV6581
- cosmic curated COSV65813
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.20
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available