K12T (p.Lys12Thr) variant of TPM1 (Tropomyosin alpha-1 chain)
K12T (p.Lys12Thr) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
K12T (p.Lys12Thr) variant details
- p.Lys12Thr
- gnomAD 15-63042864-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.71
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available