Q38K (p.Gln38Lys) variant of TPM1 (Tropomyosin alpha-1 chain)
Q38K (p.Gln38Lys) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Q38K (p.Gln38Lys) variant details
- p.Gln38Lys
- gnomAD 15-63042941-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.32
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available