P33L (p.Pro33Leu) variant of CHD7 (Q9P2D1)
P33L (p.Pro33Leu) in CHD7 (Q9P2D1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions, experimental measurements, and structural context.
P33L (p.Pro33Leu) variant details
- p.Pro33Leu
- NCI-TCGA Cosmic COSV1014
- cosmic curated COSV10141
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.20
- MetaSVM -0.84
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.155