V15F (p.Val15Phe) variant of TTN (Titin)
V15F (p.Val15Phe) in TTN (Titin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions.
V15F (p.Val15Phe) variant details
- p.Val15Phe
- rs201857541
- ClinGen CA349533693
- ClinVar RCV003143237
- Uncertain significance
- Missense
- AlphaMissense 0.09
- MetaLR 0.18
- MetaSVM -0.51
- PolyPhen-2 0.68
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance