Q9H (p.Gln9His) variant of TPM1 (Tropomyosin alpha-1 chain)
Q9H (p.Gln9His) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Q9H (p.Gln9His) variant details
- p.Gln9His
- gnomAD 15-63042856-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.63
- CADD 27.00
- PolyPhen-2 0.75
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available