F12V (p.Phe12Val) variant of USH2A (Usherin)
F12V (p.Phe12Val) in USH2A (Usherin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
F12V (p.Phe12Val) variant details
- p.Phe12Val
- NCI-TCGA Cosmic COSV5634
- cosmic curated COSV56340
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.03
- MetaSVM -0.96
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available