K30R (p.Lys30Arg) variant of TPM1 (Tropomyosin alpha-1 chain)
K30R (p.Lys30Arg) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
K30R (p.Lys30Arg) variant details
- p.Lys30Arg
- gnomAD rs1447267149
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.44
- CADD 23.80
- PolyPhen-2 0.03
- SIFT 0.32
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available