V15I (p.Val15Ile) variant of TTN (Titin)
V15I (p.Val15Ile) in TTN (Titin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes variant effect predictions, population frequency data, and published literature.
V15I (p.Val15Ile) variant details
- p.Val15Ile
- rs201857541
- ClinGen CA238531
- NCI-TCGA Cosmic COSV6042
- cosmic curated COSV60420
- Benign
- Missense
- AlphaMissense 0.09
- MetaLR 0.18
- MetaSVM -0.51
- CADD 22.70
- PolyPhen-2 0.68
- SIFT 0.20
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)