K12K (p.Lys12Lys) variant of TPM1 (Tropomyosin alpha-1 chain)
K12K (p.Lys12Lys) in TPM1 (Tropomyosin alpha-1 chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
K12K (p.Lys12Lys) variant details
- p.Lys12Lys
- rs1313549801
- gnomAD 15-63042865-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 15.70
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available