P72A (p.Pro72Ala) variant of MYLK (Q15746)
P72A (p.Pro72Ala) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P72A (p.Pro72Ala) variant details
- p.Pro72Ala
- rs60174052
- gnomAD 3-123614381-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- CADD 8.71
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 0.5)
- Structural context available
- Literature evidence available