R62H (p.Arg62His) variant of TTN (Titin)
R62H (p.Arg62His) 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.
R62H (p.Arg62His) variant details
- p.Arg62His
- rs758169489
- ClinGen CA2006397
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10061
- Benign
- Missense
- CADD 25.20
- PolyPhen-2 1.00
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)